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GENATLAS PHENOTYPE

last update : 26/03/2008

Symbol	ETFB
Location	19q13.33
Name	glutaric aciduria IIB, early onset
Corresponding gene	ETFB
related resource	MITOP database
Main clinical features	fatal neonatal acidosis and hypoglycemia with a strong 'sweaty feet' odor, and large amounts of glutaric acid in the blood and urine, risk of sudden death cardiomyopathy frequent, as well as in primary disorders of fatty acid oxidation
Genetic determination	autosomal recessive
Function/system disorder	metabolism/organic acid
Type	disease

Gene product

Name	electron transfer flavoprotein, beta, 27kD (ETFB)

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